Clinical and research tests for C3280612 - Genetic Testing Registry (GTR)

Results: 1 to 12 of 12

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WDR19 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Nephronophthisis Panel Invitae United States	54	27	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Cystic Kidney Disease Panel Invitae United States	96	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
Hereditary Cystic Kidney Diseases Panel PreventionGenetics United States	47	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephronophthisis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephronophthisis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ciliopathy Panel PreventionGenetics United States	135	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephronophthisis and Senior-Loken Syndrome Panel PreventionGenetics United States	17	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

Results: 1 to 12 of 12

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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Results: 1 to 12 of 12

Results: 1 to 12 of 12